Association of pyruvate dehydrogenase kinase 4 gene polymorphisms with type 2 diabetes and metabolic syndrome

作者：Moon Seong Su; Lee Jung Eun; Lee Young Sil; Kim Su Won; Jeoung Nam Ho; Lee In Kyu; Kim Jung Guk^*

来源：Diabetes Research and Clinical Practice, 2012, 95(2): 230-236.

DOI：10.1016/j.diabres.2011.09.035

• Pyruvate dehydrogenase kinase 4
• Pyruvate dehydrogenase complex
• Single nucleotide polymorphism
• Type 2 diabetes
• Metabolic syndrome

Aims: Pyruvate dehydrogenase kinase 4 (PDK4) plays a crucial role in glucose utilization and lipid metabolism by regulating the pyruvate dehydrogenase complex (PDC) and is an emerging therapeutic target for type 2 diabetes. To date, no study has specifically examined the relationship between PDK4 gene polymorphisms and type 2 diabetes or metabolic syndrome. %26lt;br%26gt;Methods: The association of common single nucleotide polymorphisms (SNPs) was examined in PDK4 [-208A/G (rs10085637), IVS3 + 192C/T (rs3779478), IVS6 + 31A/G (rs2301630), IVS7 + 514A/G (rs12668651), IVS10 + 75C/T (rs10247649)] with type 2 diabetes and metabolic syndrome in 651 Korean subjects with type 2 diabetes and 350 nondiabetic Korean subjects. The association of these SNPs with clinical parameters related to metabolic syndromes including obesity, hyperglycemia, hypertension, and dyslipidemia was also examined. %26lt;br%26gt;Results: No significant association was found between the studied SNPs and type 2 diabetes, metabolic syndrome, or clinical parameters. The PDK4 gene haplotype ACAGC showed a modest association with type 2 diabetes. However, the significance of this association was lost after considering for multiple comparisons. %26lt;br%26gt;Conclusions: PDK4 polymorphisms may not be associated with type 2 diabetes or metabolic syndrome. Further studies utilizing a larger study population are required to confirm these results.

• 出版日期2012-2